1. Gene
  2. UFL1 - UFM1 specific ligase 1 Gene

UFL1 - UFM1 specific ligase 1 Gene

中文名称:UFM1 特异性连接酶 1

种属: Homo sapiens

同用名: NLBP; RCAD; Maxer; KIAA0776

基因 ID: 23376 | 基因类型: protein coding

关于 UFL1

Cytogenetic location: 6q16.1 Genomic coordinates (GRCh38): 6:96,521,806-96,555,276 (from NCBI)

This gene has 2 transcripts (splice variants) and 202 orthologues. Ubiquitous expression in thyroid (RPKM 19.4), prostate (RPKM 15.2) and 25 other tissues.

功能概要

启用 UFM1 连接酶活性和蛋白激酶结合活性。参与多个过程,包括细胞蛋白质修饰过程;调节信号转导;和网状噬菌体。作用于多个过程的上游或内部,包括细胞群增殖的正向调节;蛋白酶体泛素依赖性蛋白质分解代谢过程的调节;和对内质网应激的反应。位于内质网膜;核;和双链断裂位点。部分含蛋白质复合物。 [由基因组资源联盟提供,2022 年 4 月]

Enables UFM1 Ligase activity and protein kinase binding activity. Involved in several processes, including cellular protein modification process; regulation of signal transduction; and reticulophagy. Acts upstream of or within several processes, including positive regulation of cell population proliferation; regulation of proteasomal ubiquitin-dependent protein catabolic process; and response to endoplasmic reticulum stress. Located in endoplasmic reticulum membrane; nucleus; and site of double-strand break. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]

UFL1 基因产物(1)

mRNA Protein Name
NM_015323.5 NP_056138.1 E3 UFM1-protein ligase 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables UFM1 ligase activity IDA
IDA: 通过直接分析推断
20018847 GOA
enables UFM1 ligase activity IMP
IMP: 通过突变表型推断
37036982 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
20018847 GOA
enables protein kinase binding IPI
IPI: 通过物理相互作用推断
30886146 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA damage checkpoint signaling IDA
IDA: 通过直接分析推断
30886146 GOA
involved in DNA damage response IDA
IDA: 通过直接分析推断
30783677 GOA
involved in negative regulation of IRE1-mediated unfolded protein response IDA
IDA: 通过直接分析推断
32160526 GOA
involved in negative regulation of NF-kappaB transcription factor activity IMP
IMP: 通过突变表型推断
20164180 GOA
involved in negative regulation of T cell activation IDA
IDA: 通过直接分析推断
38377992 GOA
involved in negative regulation of T cell mediated immune response to tumor cell IDA
IDA: 通过直接分析推断
38377992 GOA
involved in negative regulation of protein ubiquitination IDA
IDA: 通过直接分析推断
20164180 GOA
acts upstream of or within positive regulation of cell population proliferation IMP
IMP: 通过突变表型推断
20531390 GOA
involved in positive regulation of proteolysis involved in protein catabolic process IDA
IDA: 通过直接分析推断
36543799 GOA
involved in positive regulation of reticulophagy IDA
IDA: 通过直接分析推断
36543799 GOA
involved in protein K69-linked ufmylation IDA
IDA: 通过直接分析推断
25219498 GOA
involved in protein stabilization IDA
IDA: 通过直接分析推断
32807901 GOA
involved in protein ufmylation IDA
IDA: 通过直接分析推断
20018847 GOA
acts upstream of or within protein ufmylation IMP
IMP: 通过突变表型推断
23152784 GOA
involved in protein ufmylation IMP
IMP: 通过突变表型推断
37036982 GOA
involved in regulation of intracellular estrogen receptor signaling pathway IDA
IDA: 通过直接分析推断
25219498 GOA
acts upstream of or within regulation of proteasomal ubiquitin-dependent protein catabolic process IMP
IMP: 通过突变表型推断
20228063 GOA
acts upstream of or within regulation of protein localization IMP
IMP: 通过突变表型推断
20531390 GOA
involved in rescue of stalled ribosome IDA
IDA: 通过直接分析推断
37595036 GOA
involved in rescue of stalled ribosome IMP
IMP: 通过突变表型推断
37036982 GOA
acts upstream of or within response to endoplasmic reticulum stress IDA
IDA: 通过直接分析推断
23152784 GOA
involved in response to endoplasmic reticulum stress IDA
IDA: 通过直接分析推断
32160526 GOA
involved in reticulophagy IDA
IDA: 通过直接分析推断
32160526 GOA
involved in ribosome disassembly IDA
IDA: 通过直接分析推断
38383785 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
20164180 GOA
is active in endoplasmic reticulum IDA
IDA: 通过直接分析推断
37795761 GOA
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
20018847 GOA
is active in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
36543799 GOA
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
20531390 GOA
is active in mitochondrial outer membrane IDA
IDA: 通过直接分析推断
20164180 GOA
located in nucleus IDA
IDA: 通过直接分析推断
30886146 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
20531390 GOA
located in site of double-strand break IDA
IDA: 通过直接分析推断
30886146 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

UFL1 蛋白结构

E3_UFM1_ligase

E3_UFM1_ligase: E3 UFM1-protein ligase 1 (7 - 285)

  • 0
  • 200
  • 400
  • 600
  • 794 a.a.
蛋白主名 其他名称

E3 UFM1-protein ligase 1

E3 UFM1-protein transferase 1

UFL1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra UFL1 O94874 UFC1 Homo sapiens Q9Y3C8
Anti Tag CoIP
33961781
Intra UFL1 O94874 UFC1 Homo sapiens Q9Y3C8
Anti Tag CoIP
37595036
Intra UFL1 O94874 UFC1 Homo sapiens Q9Y3C8
ITC
37595036
Intra UFL1 O94874 DDRGK1 Homo sapiens Q96HY6
Anti Tag CoIP
37595036
Intra UFL1 O94874 CDK5RAP3 Homo sapiens Q96JB5
Y2H Array
32296183
Intra UFL1 O94874 CDK5RAP3 Homo sapiens Q96JB5
Anti Tag CoIP
37595036
Intra UFL1 O94874 CDK5RAP3 Homo sapiens Q96JB5
Y2H Prey Pooling
32296183
Intra UFL1 O94874 CDK5RAP3 Homo sapiens Q96JB5
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Renal Cysts And Diabetes Syndrome

RCAD

Mody5

Congenital Anomalies Of The Kidney And Urinary Tract With Diabetes

Cakut With Diabetes

Maturity-Onset Diabetes Of The Young Type 5

Tubulointerstitial Kidney Disease, Autosomal Dominant, 3

Adtkd3

Atypical Familial Juvenile Hyperuricemic Nephropathy

Atypical Fjhn

Familial Hypoplastic Glomerulocystic Kidney

Maturity-Onset Diabetes Of The Young, Type 5

Hyperuricemic Nephropathy, Familial Juvenile, Atypical

Fjhn, Atypical

Glomerulocystic Kidney Disease, Hypoplastic Type

Glomerulocystic Kidney, Familial Hypoplastic

Hypoplastic Type Glomerulocystic Kidney Disease

Glomerulocystic Kidney Disease Hypoplastic Type

Renal-Diabetes Mody5 Syndrome

Beukes Hip Dysplasia

Hip Dysplasia, Beukes Type

Beukes Familial Hip Dysplasia

BFHD

Cilliers-Beighton Syndrome

Osteoarthropathy, Premature Degenerative, Of Hip

Premature Degenerative Osteoarthropathy Of The Hip

BHD

Beukes Type Hip Dysplasia

Hip Dysplasia Beukes Type

Premature Degenerative Osteoarthropathy

Dysplasia, Hip, Beukes Type

Spinocerebellar Ataxia, Autosomal Recessive 24

SCAR24

Autosomal Recessive Spinocerebellar Ataxia 24

Spinocerebellar Ataxia, Autosomal Recessive, 24

Ataxia, Spinocerebellar, Autosomal Recessive, Type 24

Meier-Gorlin Syndrome 8

MGORS8

Deafness, Autosomal Dominant 70

DFNA70

Autosomal Dominant Nonsyndromic Deafness 70

Autosomal Dominant Deafness 70

Deafness, Autosomal Dominant, 70

Developmental And Epileptic Encephalopathy 44

DEE44

Epileptic Encephalopathy, Early Infantile, 44

Eiee44

Developmental And Epileptic Encephalopathy, 44

Early Infantile Epileptic Encephalopathy 44

Encephalopathy, Epileptic, Early Infantile, Type 44

Hairy Tongue

Overgrowth Of Filiform Papillae

Tongue, Hairy

Maturity-Onset Diabetes Of The Young

MODY

Maturity Onset Diabetes Mellitus In Young

Mason-Type Diabetes

Mason Type Diabetes

Maturity Onset Diabetes Of The Young

Mody Syndrome

Diabetes Of The Young, Maturity-Onset

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Mus musculus UFL1 MGD MGI:1914740
Rattus norvegicus UFL1 RGD RGD:1309308
Bos taurus UFL1 VGNC VGNC:36646
Canis familiaris UFL1 VGNC VGNC:48115
Macaca mulatta UFL1 VGNC VGNC:79370
Felis catus UFL1 VGNC VGNC:66803